Origin of de Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings | Zendy

Emma L. Edghill | Zendy; Anna L. Gloyn | Zendy; Anne Goriely | Zendy; Lorna W. Harries | Zendy; Sarah E. Flanagan | Zendy; Julia Rankin | Zendy; Andrew T. Hattersley | Zendy; Sian Ellard | Zendy

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Origin of de Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings

Author(s) -

Emma L. Edghill,

Anna L. Gloyn,

Anne Goriely,

Lorna W. Harries,

Sarah E. Flanagan,

Julia Rankin,

Andrew T. Hattersley,

Sian Ellard

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-2817

Subject(s) - germline mosaicism , genetics , biology , proband , germline , allele , mutation , germline mutation , non mendelian inheritance , gene , mitochondrial dna

Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known.

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